Cole-carpenter syndrome 1

Preferred Label : Cole-carpenter syndrome 1;

Symbol : CLCRP1;

CISMeF acronym : CLCRP1;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Bone fragility with craniosynostosis, ocular proptosis, hydrocephalus, and distinctive facial features;

Inheritance : Autosomal dominant;

Molecular basis : Caused by mutation in the procollagen-proline, 2-oxoglutarate-4-dioxygenase, beta subunit gene (P4HB, 176790.0001);

Prefixed ID : #112240;

Details

Origin ID

112240;

UMLS CUI

C4317154;

DO Cross reference
- Cole-Carpenter syndrome [DO Concept]
Genes related to phenotype
- Procollagen-proline, 2-oxoglutarate-4-dioxygenase, beta subunit [OMIM gene]
HPO term(s)
- Autosomal dominant inheritance [HPO term]
- Communicating hydrocephalus [HPO term]
- Coronal craniosynostosis [HPO term]
- Frontal bossing [HPO term]
- High pitched voice [HPO term]
- Hydrocephalus [HPO term]
- Microdontia [HPO term]
- Micrognathia [HPO term]
- Midface retrusion [HPO term]
- Orbital craniosynostosis [HPO term]
- Osteopenia [HPO term]
- Recurrent fractures [HPO term]
- Scoliosis [HPO term]
- Shallow orbits [HPO term]
- Short stature [HPO term]
- Vertebral compression fracture [HPO term]
Not associated HPO term(s)
- Global developmental delay [HPO term]
ORDO concept(s)
- Cole-Carpenter syndrome [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Cole Carpenter syndrome [MeSH concept]
- Cole-Carpenter Syndrome [NCIt concept]
- Cole-Carpenter syndrome [ORDO Disease]
- Cole-Carpenter syndrome [DO Concept]
- cole carpenter syndrome [MeSH Supplementary Concept]
Validated automatic mappings to NTBT
- Cole Carpenter syndrome [MeSH concept]
- Cole-Carpenter Syndrome [NCIt concept]
- Cole-Carpenter dysplasia (disorder) [SNOMED CT concept]
- Cole-Carpenter syndrome [DO Concept]
- Cole-Carpenter syndrome [ICD-11 More detail]
- Cole-Carpenter syndrome [ORDO Disease]
- cole carpenter syndrome [MeSH Supplementary Concept]

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